Human Gene LDLR (uc021upd.1) Description and Page Index
  Description: Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.
RefSeq Summary (NM_000527): The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010].
Transcript (Including UTRs)
   Position: hg19 chr19:11,201,275-11,244,505 Size: 43,231 Total Exon Count: 18 Strand: +
Coding Region
   Position: hg19 chr19:11,217,336-11,241,992 Size: 24,657 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:11,201,275-11,244,505)mRNA (may differ from genome)Protein (597 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHuman Cortex Gene ExpressionLynxMGI
neXtProtOMIMPubMedReactomeStanford SOURCETreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: LDLR_HUMAN
DESCRIPTION: RecName: Full=Low-density lipoprotein receptor; Short=LDL receptor; Flags: Precursor;
FUNCTION: Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. In case of HIV-1 infection, functions as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.
SUBUNIT: Interacts with LDLRAP1, ARRB1, SNX17. Interacts (via NPXY motif) with DAB2 (via PID domain); the interaction is impaired by tyrosine phosphorylation of the NPXY motif. Interacts with the full length immature form of PCSK9 (via C-terminus). Interacts with HCV E1/E2 heterodimer. Interacts with HIV-1 Tat.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Endomembrane system; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein. Golgi apparatus. Early endosome. Late endosome. Cell surface. Lysosome. Note=Found distributed from the plasma membrane to intracellular compartments. Localizes to the Golgi apparatus, early and late endosomes/lysosomes and cell surface in the presence of PCSK9.
DOMAIN: The NPXY motif mediates the interaction with the clathrin adaptor DAB2 involved in receptor internalization (By similarity).
PTM: N- and O-glycosylated.
PTM: Ubiquitinated by MYLIP leading to degradation.
DISEASE: Defects in LDLR are the cause of familial hypercholesterolemia (FH) [MIM:143890]; a common autosomal semi- dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).
SIMILARITY: Belongs to the LDLR family.
SIMILARITY: Contains 3 EGF-like domains.
SIMILARITY: Contains 7 LDL-receptor class A domains.
SIMILARITY: Contains 6 LDL-receptor class B repeats.
WEB RESOURCE: Name=LDLR; Note=LDLR mutation database; URL="http://www.ucl.ac.uk/fh/";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LDLR";
WEB RESOURCE: Name=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=LDLR";

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): LDLR
CDC HuGE Published Literature: LDLR
Positive Disease Associations: 1-Alkyl-2-acetylglycerophosphocholine Esterase , Achilles tendon xanthomas , Alzheimer's Disease , Atherosclerosis , carotid artery intima-media thickness , cholesterol , cholesterol, HDL cholesterol, LDL , cholesterol, LDL , Cholesterol, total , cirrhosis hepatitis C, chronic , Coronary Artery Disease , diabetes mellitus , differential plasma lipoprotein response to simvastatin , familial hypercholesterolemia. , hepatitis C , hypercholesterolemia of hypothyroidism , hyperlipidemia , hypertension , LDL cholesterol , Lipoproteins, LDL , mild familial hypercholesterolaemia , mild familial hypercholesterolemia , myocardial infarction (early onset) , normal serum cholesterol levels , obesity , plasma lipid and apolipoprotein levels
Related Studies:
  1. 1-Alkyl-2-acetylglycerophosphocholine Esterase
    Harald Grallert et al. European heart journal 2012, Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies., European heart journal. [PubMed 22003152]
    Levels of Lp-PLA2 mass and activity were associated with PLA2G7, the gene coding for this protein. Lipoprotein-associated phospholipase A2 activity was also strongly associated with genetic variants related to low-density lipoprotein cholesterol levels.
  2. Achilles tendon xanthomas
    Yamakawa K et al. 1991, Family studies of the LDL receptor gene of relatively severe hereditary hypercholesterolemia associated with Achilles tendon xanthomas., Human genetics. 1991 Mar;86(5):445-9. [PubMed 1673111]
  3. Alzheimer's Disease
    Bi, S. et al. 2001, Association between low-density lipoprotein receptor-related protein gene, butyrylcholinesterase gene and Alzheimer' s disease in Chinese., Chinese medical sciences journal. 2001 Jun;16(2):71-5. [PubMed 12901493]
    A positive correlation was found between LRP gene polymorphism and AD, but not between BchE gene polymorphism and AD in Chinese AD cases.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: LDLR
Diseases sorted by gene-association score: hypercholesterolemia, familial* (1260), homozygous familial hypercholesterolemia* (369), hypercholesterolemia, familial, 3* (283), ldlr-related familial hypercholesterolemia, autosomal dominant* (100), stomatitis (35), familial hyperlipidemia (17), aortic atherosclerosis (16), hypercholesterolemia, due to ligand-defective apo b (15), hypercholesterolemia, familial, autosomal recessive (15), atherosclerosis (15), xanthomatosis (14), defective apolipoprotein b-100 (13), hepatitis c (13), osteoporosis-pseudoglioma syndrome (10), hypobetalipoproteinemia (10), hyperlipoproteinemia, type iii (10), pinguecula (9), skin lipoma (7), hyperalphalipoproteinemia (7), common cold (7), lipoprotein glomerulopathy (7), smith-lemli-opitz syndrome (7), coronary artery disease (7), hepatitis (7), craniodiaphyseal dysplasia (6), arcus senilis (5), hypoalphalipoproteinemia (4), charcot-marie-tooth disease, type 4d (4), norum disease (3), lipid metabolism disorder (3), hepatitis c virus (3), cerebrovascular disease (3), vascular disease (2), artery disease (2), myocardial infarction (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 28.19 RPKM in Adrenal Gland
Total median expression: 314.14 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -428.501043-0.411 Picture PostScript Text
3' UTR -915.802513-0.364 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR000152 - EGF-type_Asp/Asn_hydroxyl_site
IPR018097 - EGF_Ca-bd_CS
IPR009030 - Growth_fac_rcpt
IPR023415 - LDLR_class-A_CS
IPR000033 - LDLR_classB_rpt
IPR002172 - LDrepeatLR_classA_rpt

Pfam Domains:
PF00057 - Low-density lipoprotein receptor domain class A
PF00058 - Low-density lipoprotein receptor repeat class B
PF07645 - Calcium-binding EGF domain
PF12661 - Human growth factor-like EGF
PF12662 - Complement Clr-like EGF-like
PF14670 - Coagulation Factor Xa inhibitory site

SCOP Domains:
50952 - Soluble quinoprotein glucose dehydrogenase
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
101898 - NHL repeat
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
57424 - LDL receptor-like module
57567 - Serine proterase inhibitors
57196 - EGF/Laminin
57184 - Growth factor receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1AJJ
- X-ray MuPIT

1D2J
- NMR MuPIT

1F5Y
- NMR MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
1F8Z - NMR 1HJ7 - NMR MuPIT 1HZ8 - NMR MuPIT
1I0U - NMR MuPIT 1IJQ - X-ray MuPIT 1LDL - NMR MuPIT
1LDR - NMR MuPIT 1LRX - Model 1N7D - X-ray MuPIT
1XFE - NMR MuPIT 2FCW - X-ray MuPIT 2KRI - NMR MuPIT
2LGP - NMR MuPIT 2W2M - X-ray MuPIT 2W2N - X-ray MuPIT
2W2O - X-ray MuPIT 2W2P - X-ray MuPIT 2W2Q - X-ray MuPIT
3BPS - X-ray MuPIT 3GCW - X-ray MuPIT 3GCX - X-ray MuPIT
3M0C - X-ray MuPIT 3P5B - X-ray MuPIT 3P5C - X-ray MuPIT
3SO6 - X-ray


ModBase Predicted Comparative 3D Structure on P01130
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001540 beta-amyloid binding
GO:0001618 virus receptor activity
GO:0002020 protease binding
GO:0005041 low-density lipoprotein receptor activity
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0030169 low-density lipoprotein particle binding
GO:0030229 very-low-density lipoprotein particle receptor activity
GO:0032050 clathrin heavy chain binding
GO:0042802 identical protein binding

Biological Process:
GO:0006629 lipid metabolic process
GO:0006869 lipid transport
GO:0006897 endocytosis
GO:0006898 receptor-mediated endocytosis
GO:0007616 long-term memory
GO:0008202 steroid metabolic process
GO:0008203 cholesterol metabolic process
GO:0010628 positive regulation of gene expression
GO:0010629 negative regulation of gene expression
GO:0010867 positive regulation of triglyceride biosynthetic process
GO:0010899 regulation of phosphatidylcholine catabolic process
GO:0010986 positive regulation of lipoprotein particle clearance
GO:0015914 phospholipid transport
GO:0016032 viral process
GO:0030299 intestinal cholesterol absorption
GO:0030301 cholesterol transport
GO:0034381 plasma lipoprotein particle clearance
GO:0034382 chylomicron remnant clearance
GO:0034383 low-density lipoprotein particle clearance
GO:0042157 lipoprotein metabolic process
GO:0042159 lipoprotein catabolic process
GO:0042632 cholesterol homeostasis
GO:0045807 positive regulation of endocytosis
GO:0046718 viral entry into host cell
GO:0050729 positive regulation of inflammatory response
GO:0051246 regulation of protein metabolic process
GO:0051248 negative regulation of protein metabolic process
GO:0061024 membrane organization
GO:0061771 response to caloric restriction
GO:0070508 cholesterol import
GO:0071398 cellular response to fatty acid
GO:0071404 cellular response to low-density lipoprotein particle stimulus
GO:0090118 receptor-mediated endocytosis involved in cholesterol transport
GO:0090181 regulation of cholesterol metabolic process
GO:0097242 beta-amyloid clearance
GO:1900223 positive regulation of beta-amyloid clearance
GO:1903979 negative regulation of microglial cell activation
GO:1905167 positive regulation of lysosomal protein catabolic process

Cellular Component:
GO:0005622 intracellular
GO:0005764 lysosome
GO:0005768 endosome
GO:0005769 early endosome
GO:0005770 late endosome
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005905 clathrin-coated pit
GO:0009897 external side of plasma membrane
GO:0009986 cell surface
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0034362 low-density lipoprotein particle
GO:0036020 endolysosome membrane
GO:0036477 somatodendritic compartment
GO:0043235 receptor complex
GO:0045177 apical part of cell
GO:0097443 sorting endosome
GO:1990666 PCSK9-LDLR complex


-  Descriptions from all associated GenBank mRNAs
  CS329402 - Sequence 3 from Patent WO2006004660.
CS329403 - Sequence 4 from Patent WO2006004660.
AK299038 - Homo sapiens cDNA FLJ50622 complete cds, highly similar to Low-density lipoprotein receptor precursor.
AK300313 - Homo sapiens cDNA FLJ50672 complete cds, highly similar to Low-density lipoprotein receptor precursor.
AK296312 - Homo sapiens cDNA FLJ50552 complete cds, highly similar to Low-density lipoprotein receptor precursor.
AK295612 - Homo sapiens cDNA FLJ54620 complete cds, highly similar to Low-density lipoprotein receptor precursor.
AB209409 - Homo sapiens mRNA for low density lipoprotein receptor precursor variant protein.
BC014514 - Homo sapiens low density lipoprotein receptor, mRNA (cDNA clone MGC:654 IMAGE:3542845), complete cds.
AY114155 - Homo sapiens low density lipoprotein receptor (LDLR) mRNA, complete cds.
AB384938 - Synthetic construct DNA, clone: pF1KB4387, Homo sapiens LDLR gene for low-density lipoprotein receptor precursor, complete cds, without stop codon, in Flexi system.
DQ893879 - Synthetic construct Homo sapiens clone IMAGE:100008339; FLH165214.01L; RZPDo839H05157D low density lipoprotein receptor (familial hypercholesterolemia) (LDLR) gene, encodes complete protein.
BT007361 - Homo sapiens low density lipoprotein receptor (familial hypercholesterolemia) mRNA, complete cds.
BX648281 - Homo sapiens mRNA; cDNA DKFZp686J1411 (from clone DKFZp686J1411).
FW340025 - Screening.
CS329401 - Sequence 2 from Patent WO2006004660.
S40543 - low density lipoprotein receptor {exon 6} [human, mRNA Partial Mutant, 177 nt].
HM369522 - Homo sapiens mutant low density lipoprotein (LDLR) mRNA, partial sequence.
M28219 - Homo sapiens low density lipoprotein receptor (FH 10 mutant causing familial hypercholesterolemia) mRNA, 3' end.
S70123 - Homo sapiens low density lipoprotein receptor mRNA, partial cds.
JD264032 - Sequence 245056 from Patent EP1572962.
JD537121 - Sequence 518145 from Patent EP1572962.
JD399489 - Sequence 380513 from Patent EP1572962.
JD403606 - Sequence 384630 from Patent EP1572962.
JD244551 - Sequence 225575 from Patent EP1572962.
JD553924 - Sequence 534948 from Patent EP1572962.
JD244611 - Sequence 225635 from Patent EP1572962.
JD319854 - Sequence 300878 from Patent EP1572962.
JD118583 - Sequence 99607 from Patent EP1572962.
JD149610 - Sequence 130634 from Patent EP1572962.
JD062374 - Sequence 43398 from Patent EP1572962.
JD246085 - Sequence 227109 from Patent EP1572962.
JD470528 - Sequence 451552 from Patent EP1572962.
JD391024 - Sequence 372048 from Patent EP1572962.
JD231616 - Sequence 212640 from Patent EP1572962.
JD381808 - Sequence 362832 from Patent EP1572962.
JD372649 - Sequence 353673 from Patent EP1572962.
JD469883 - Sequence 450907 from Patent EP1572962.
JD071223 - Sequence 52247 from Patent EP1572962.
JD230361 - Sequence 211385 from Patent EP1572962.
JD411508 - Sequence 392532 from Patent EP1572962.
JD554955 - Sequence 535979 from Patent EP1572962.
JD396896 - Sequence 377920 from Patent EP1572962.
JD516030 - Sequence 497054 from Patent EP1572962.
JD287718 - Sequence 268742 from Patent EP1572962.
JD388592 - Sequence 369616 from Patent EP1572962.
JD075505 - Sequence 56529 from Patent EP1572962.
JD171896 - Sequence 152920 from Patent EP1572962.
JD440922 - Sequence 421946 from Patent EP1572962.
JD529352 - Sequence 510376 from Patent EP1572962.
JD169571 - Sequence 150595 from Patent EP1572962.
JD169572 - Sequence 150596 from Patent EP1572962.
JD306258 - Sequence 287282 from Patent EP1572962.
JD055135 - Sequence 36159 from Patent EP1572962.
JD125514 - Sequence 106538 from Patent EP1572962.
JD125515 - Sequence 106539 from Patent EP1572962.
JD395299 - Sequence 376323 from Patent EP1572962.
JD138436 - Sequence 119460 from Patent EP1572962.
JD138438 - Sequence 119462 from Patent EP1572962.
JD176482 - Sequence 157506 from Patent EP1572962.
JD066684 - Sequence 47708 from Patent EP1572962.
JD183978 - Sequence 165002 from Patent EP1572962.
JD092341 - Sequence 73365 from Patent EP1572962.
JD558978 - Sequence 540002 from Patent EP1572962.
JD404816 - Sequence 385840 from Patent EP1572962.
JD455354 - Sequence 436378 from Patent EP1572962.
JD266518 - Sequence 247542 from Patent EP1572962.
JD207409 - Sequence 188433 from Patent EP1572962.
JD445279 - Sequence 426303 from Patent EP1572962.
JD143828 - Sequence 124852 from Patent EP1572962.
JD510958 - Sequence 491982 from Patent EP1572962.
JD088815 - Sequence 69839 from Patent EP1572962.
JD268260 - Sequence 249284 from Patent EP1572962.
JD183418 - Sequence 164442 from Patent EP1572962.
JD357275 - Sequence 338299 from Patent EP1572962.
JD553156 - Sequence 534180 from Patent EP1572962.
JD511086 - Sequence 492110 from Patent EP1572962.
JD354072 - Sequence 335096 from Patent EP1572962.
JD269721 - Sequence 250745 from Patent EP1572962.
JD273802 - Sequence 254826 from Patent EP1572962.
JD166791 - Sequence 147815 from Patent EP1572962.
JD043147 - Sequence 24171 from Patent EP1572962.
JD117105 - Sequence 98129 from Patent EP1572962.
JD277616 - Sequence 258640 from Patent EP1572962.
JD103041 - Sequence 84065 from Patent EP1572962.
JD098671 - Sequence 79695 from Patent EP1572962.
JD318571 - Sequence 299595 from Patent EP1572962.
JD444542 - Sequence 425566 from Patent EP1572962.
JD444543 - Sequence 425567 from Patent EP1572962.
JD182725 - Sequence 163749 from Patent EP1572962.
JD531907 - Sequence 512931 from Patent EP1572962.
JD259010 - Sequence 240034 from Patent EP1572962.
JD274940 - Sequence 255964 from Patent EP1572962.
JD474058 - Sequence 455082 from Patent EP1572962.
JD058317 - Sequence 39341 from Patent EP1572962.
JD081452 - Sequence 62476 from Patent EP1572962.
JD196479 - Sequence 177503 from Patent EP1572962.
JD144149 - Sequence 125173 from Patent EP1572962.
JD195068 - Sequence 176092 from Patent EP1572962.
JD195069 - Sequence 176093 from Patent EP1572962.
JD472482 - Sequence 453506 from Patent EP1572962.
JD533106 - Sequence 514130 from Patent EP1572962.
JD178669 - Sequence 159693 from Patent EP1572962.
JD447054 - Sequence 428078 from Patent EP1572962.
JD292798 - Sequence 273822 from Patent EP1572962.
JD442741 - Sequence 423765 from Patent EP1572962.
JD377639 - Sequence 358663 from Patent EP1572962.
JD366411 - Sequence 347435 from Patent EP1572962.
JD168230 - Sequence 149254 from Patent EP1572962.
JD556890 - Sequence 537914 from Patent EP1572962.
JD183453 - Sequence 164477 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04144 - Endocytosis

BioCarta from NCI Cancer Genome Anatomy Project
h_fxrPathway - FXR and LXR Regulation of Cholesterol Metabolism
h_s1pPathway - SREBP control of lipid synthesis
h_LDLpathway - Low-density lipoprotein (LDL) pathway during atherogenesis

Reactome (by CSHL, EBI, and GO)

Protein P01130 (Reactome details) participates in the following event(s):

R-HSA-171122 LDL + LDLR => LDL:LDLR complex
R-HSA-174657 chylomicron remnant:apoE complex + LDLR => chylomicron remnant:apoE:LDLR complex
R-HSA-6784734 PCSK9 binds LDLR
R-HSA-171087 LDLR [endosome membrane] => LDLR [plasma membrane]
R-HSA-171106 LDLR:LDL complex => LDLR + LDL
R-HSA-174624 chylomicron remnant:apoE:LDLR complex => chylomicron remnant:apoE + LDLR
R-HSA-171141 LDL:LDLR complex [plasma membrane] => LDL:LDLR complex [clathrin-coated vesicle] (LDLRAP1-independent)
R-HSA-8863471 LDLR is bound by DAB2 and ARH
R-HSA-174706 chylomicron remnant:apoE:LDLR complex [plasma membrane] => chylomicron remnant:apoE:LDLR complex [clathrin-coated vesicle] (LDLRAP1-dependent)
R-HSA-6784735 PCSK9:LDLR bind to Clathrin
R-HSA-2424254 LDLR transports extracellular CR:atREs to cytosol
R-HSA-171059 LDLR:LDL complex [coated vesicle membrane] => LDLR:LDL complex [endosome membrane]
R-HSA-174808 chylomicron remnant:apoE:LDLR complex [coated vesicle membrane] => chylomicron remnant:apoE:LDLR complex [endosome membrane]
R-HSA-6784729 PCSK9:LDLR:Clathrin-coated vesicle transport from plasma membrane to endolysosome
R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit
R-HSA-8868071 Clathrin recruits PIK3C2A
R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission
R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P
R-HSA-8871194 RAB5 and GAPVD1 bind AP-2
R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating
R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle
R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle
R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit
R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery
R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2
R-HSA-8868236 BAR domain proteins recruit dynamin
R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit
R-HSA-8964038 LDL clearance
R-HSA-8964026 Chylomicron clearance
R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis
R-HSA-8964043 Plasma lipoprotein clearance
R-HSA-975634 Retinoid metabolism and transport
R-HSA-8856828 Clathrin-mediated endocytosis
R-HSA-174824 Plasma lipoprotein assembly, remodeling, and clearance
R-HSA-2187338 Visual phototransduction
R-HSA-6806667 Metabolism of fat-soluble vitamins
R-HSA-199991 Membrane Trafficking
R-HSA-382551 Transport of small molecules
R-HSA-418594 G alpha (i) signalling events
R-HSA-196854 Metabolism of vitamins and cofactors
R-HSA-5653656 Vesicle-mediated transport
R-HSA-388396 GPCR downstream signalling
R-HSA-1430728 Metabolism
R-HSA-372790 Signaling by GPCR
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B4DJZ8, B4DR00, B4DTQ3, C0JYY8, FW340025, LDLR_HUMAN, NM_000527, NP_000518, P01130, Q53ZD9, Q9UDH7
UCSC ID: uc021upd.1
RefSeq Accession: NM_000527
Protein: P01130 (aka LDLR_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene LDLR:
hyperchol (Familial Hypercholesterolemia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: FW340025.1
exon count: 18CDS single in 3' UTR: no RNA size: 5356
ORF size: 1794CDS single in intron: no Alignment % ID: 99.79
txCdsPredict score: 2985.00frame shift in genome: no % Coverage: 99.59
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.